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rs587784043

From SNPedia

Orientationplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs587784043(-;-)
Make rs587784043(-;GA)
Make rs587784043(GA;GA)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37058919
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784043
ebirs587784043
HLIrs587784043
Exacrs587784043
Varsomers587784043
Maprs587784043
PheGenIrs587784043
hapmaprs587784043
1000 genomesrs587784043
hgdprs587784043
ensemblrs587784043
gopubmedrs587784043
geneviewrs587784043
scholarrs587784043
googlers587784043
pharmgkbrs587784043
gwascentralrs587784043
openSNPrs587784043
23andMers587784043
23andMe allrs587784043
SNP Nexus

SNPshotrs587784043
SNPdbers587784043
MSV3drs587784043
GWAS Ctlgrs587784043
Max Magnitude0
ClinVar
Risk rs587784043(;)
Alt rs587784043(;)
Reference rs587784043(AG;AG)
Significance Pathogenic
Disease Cornelia de Lange syndrome 1
Variation info
Gene NIPBL
CLNDBN Cornelia de Lange syndrome 1
Reversed 0
HGVS NC_000005.9:g.37059021_37059022delGA
CLNSRC
CLNACC RCV000146725.1,